Varaico: Literature-Extracted Genetic Variants

Gene:CD248
Variant:p.P228L

CD248

90 papers

Pfam Domains

Lectin_Caa 40–158UCSCLectin C-type domain
THBDaa 161–228UCSCThrombomodulin-like domain
FXa_inhibitionaa 235–271UCSCCoagulation Factor Xa inhibitory site

Gene Aliases

HGNC Name

CD248 molecule

HGNC Previous Symbol

CD164L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_020404.3
p.P228L
c.683C>T
Surrounding Variants
1 paper
NM_020404.3
p.P228R
c.683C>G
1 paper
NM_020404.3
p.V214M
c.640G>A
1 paper
NM_020404.3
p.E243E
c.729A>G
2 papers
NM_020404.3
p.H244Y
c.730C>T
1 paper
NM_020404.3
p.A200T
c.598G>A
1 paper
NM_020404.3
p.R257C
c.769C>T
1 paper
NM_020404.3
p.G196D
c.587G>A
1 paper
NM_020404.3
p.E260G
c.779A>G
1 paper
NM_020404.3
p.G196S
c.586G>A
1 paper
NM_020404.3
p.G268A
c.803G>C
1 paper
NM_020404.3
p.T188insFs
c.563_564ins4
1 paper
NM_020404.3
p.F183S
c.548T>C
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